ライフサイエンスコーパス: RET gene

1 cing to phase two variants 9 kb apart in the RET gene.

2 ction of the corresponding mutation into the ret gene.

3 orted with loss of function mutations in the Ret gene.

4 those caused by mutations in the SOX10 or c-RET genes.

5 in the proximal promoter region of the human RET gene (-51 to -33 relative to transcription start sit

6 red in the clinic for tumors with activating RET gene alterations with modest clinical efficacy.

7 w the available methods for the detection of RET gene alterations, their potential applications and s

8 an 18 Mb region on 10q11.2-21 containing the RET gene and its recombination partners, the H4 and NCOA

9 lar biology behind specific mutations of the RET gene and their prognostic implications have led to t

10 angement is formed by fusion of the ELE1 and RET genes, and is highly prevalent in radiation-induced

11 Rearrangements involving the RET gene are common in radiation-associated papillary th

12 Mutations in the RET gene are responsible for approximately half of famil

13 For the detection of C533G mutation of the RET gene, biotinylated oligonucleotide probes were used.

14 ain how putative activating mutations of the RET gene can produce a phenotype usually associated with

15 zygous mutations in the coding region of the RET gene cause a severe form of Hirschsprung disease (to

16 tions in the REarranged during Transfection (RET) gene cause MEN2A, MEN2B, and familial medullary thy

17 ximately 8 Mb in length, which positions the RET gene close to both, the NCOA4 and H4, loci.

18 Cis-acting sequences around the RET gene, conserved in mammals but not in fish, are able

19 entified an intronic enhancer variant in the RET gene disrupting SOX10 binding and increasing Hirschs

20 phenotype can be largely rescued by reducing Ret gene dosage.

21 The c-ret gene encodes a receptor tyrosine kinase that is expr

22 The RET gene, encoding a receptor tyrosine kinase, is unusua

23 TA2, and SOX10 to their cognate CREs, reduce RET gene expression, and dysregulate other ENS and HSCR

24 even with experimental evidence of affecting RET gene expression, extending the known RET-EDNRB GRN t

25 ng enhancers leads to synergistic effects on RET gene expression.

26 cer activity, and four of these seven affect RET gene expression; of these, two enhancers are bound b

27 s well as 1 EML4-ALK gene fusion and 1 KIF5B-RET gene fusion.

28 s identified 11 additional tumors with KIF5B-RET gene fusions (2.0%; 95% CI 0.8-3.1%).

29 ALK, ROS1 and RET gene fusions are important predictive biomarkers for

30 Novel configurations of BRAF, NTRK3, and RET gene fusions resulting from chromosomal translocatio

31 d with transcriptional activation of mutated RET gene in human medullary thyroid carcinoma TT cells.

32 al role in transcriptional regulation of the RET gene in vivo, providing insight into a novel strateg

33 haracterized the breakpoints in the ELE1 and RET genes in 12 post-Chernobyl pediatric papillary carci

34 transcriptional profiling indicates that the retS gene is required for expression of the Type III sec

35 ) p53(+/-) mice, amplified the region of the Ret gene known to be mutated in human MTC, and detected

36 on profile of MTC with regard to the type of RET gene mutation and the cancer genetic background (her

37 risk-stratification scheme based on type of RET gene mutation informs the age at which prophylactic

38 We also noticed that the site of the RET gene mutation slightly influenced the gene expressio

39 The absence of germline VHL and RET gene mutations in many of these families suggested t

40 Identification of RET gene mutations in patients at-risk for the developme

41 iers of germline pathogenic mutations of the RET gene, or were first-degree relatives with histologic

42 arcinomas harboring BRAF (V600E) mutation or RET gene rearrangements (i.e., BRAF-like tumors) and ind

43 patients with diverse tumor types harboring RET gene rearrangements or activating mutations.

44 RET gene rearrangements retaining the kinase domain are

45 ) expression patterns of HSCR-associated and Ret gene regulatory network genes are impacted by Ret Lo

46 In humans and mice, mutations in the Ret gene result in Hirschsprung's disease and renal defe

47 ine kinase, which is believed to convert the RET gene to an oncogene by altering the enzyme's substra

48 tic screening for a germline mutation at the RET gene was performed in 11 family members.

49 can bind to and activate expression of the c-RET gene, which is often mutated in Hirschsprung disease